We are analyzing https://link.springer.com/article/10.1007/bf00394291.

Title:
The cri du chat syndrome | Human Genetics
Description:
Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence and the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed.
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Keywords {🔍}

google, scholar, cri, chat, syndrome, chromosome, genet, med, criduchat, maladie, pediatr, ann, short, translocation, paris, case, cry, deletion, cat, lancet, humangenetik, arm, partial, niebuhr, dun, miller, del, hum, bras, dune, propos, cas, child, article, ment, délétion, paediatr, acta, human, cytogenetics, defic, lejeune, jpn, une, patients, clin, sindrome, clinical, cases, mentally,

Topics {✒️}

cri-du-chat-syndrom bei zwillingen une observation anatomo-clinique maladie du cri-du-chat ségrégation familiale d'une suspected cri-du-chat syndrome cri-du-chat syndrome combined propos d'une observation syndrome d'ehlers-danlos associ� cri-du-chat-syndrom cri-du-chat syndrome �cri-du-chat’ syndrome cri-du-chat syndrome apparent cri-du-chat month download article/chapter 32 cri-du-chat probands à propos d' cri-du-chat child une délétion autosomique le une nouvelle cri-du-chat cri du chat �cri du chat �cri-du-chat cri du chat �cri du chat �cri-du-chat la trisomie 5p marker locus étude d' une anomalie chromosomique york-san francisco-london das katzenschrei-syndrom liveborn birth-weight data b-group ring chromosome congenital heart disease red-cell triosephosphate isomerase découverte prénatale d' propos d' die chromosomalen syndrome de novo translocations multiple developmental anomalies de novo appearance deletion-translocation del privacy choices/manage cookies etude d' partial c-group trisomy chromosomal abnormality birth order de sa réciproque b-group chromosome

Questions {❓}

Mosaicism for a deleted chromosome 5?

Schema {🗺️}

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         Gene Function
         Metabolic Diseases
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